Canonical Allele Identifier: CA2277181

Gene: BTD

Linked Data

• dbSNP Id: rs752102175
• ExAC: 3:15643387 G / C
• gnomAD v2: 3-15643387-G-C
• gnomAD v3: 3-15601880-G-C
• gnomAD v4: 3-15601880-G-C
• MyVariant Identifiers: chr3:g.15643387G>C (hg19) ; chr3:g.15601880G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15601880G>C , CM000665.2:g.15601880G>C	GRCh38
NC_000003.11:g.15643387G>C , CM000665.1:g.15643387G>C	GRCh37
NC_000003.10:g.15618391G>C	NCBI36
NG_008019.1:g.5133G>C
NG_008019.2:g.5529G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000671928.2:c.-31G>C	ENSP00000500069.2:n.-31G>C
ENST00000672892.2:c.-31G>C	ENSP00000499944.2:n.-31G>C
ENST00000303498.10:c.-307G>C	ENSP00000306477.6:n.-307G>C
ENST00000417015.3:c.-31G>C	ENSP00000403775.3:n.-31G>C
ENST00000427382.2:c.-17+233G>C	ENSP00000397113.2:n.-17+233G>C
ENST00000437172.6:c.-219G>C	ENSP00000400995.2:n.-219G>C
ENST00000449107.7:c.-17+110G>C	ENSP00000388212.2:n.-17+110G>C
ENST00000467027.6:n.117G>C
ENST00000643237.3:c.-31G>C MANE Select	ENSP00000495254.2:n.-31G>C
ENST00000646371.1:c.-293+110G>C	ENSP00000495866.1:n.-293+110G>C
ENST00000672065.1:c.30G>C	ENSP00000500403.1:p.Arg10Ser
ENST00000672112.1:c.-153G>C	ENSP00000500193.1:n.-153G>C
ENST00000672141.1:c.-31G>C	ENSP00000500210.1:n.-31G>C
ENST00000672336.1:c.-723G>C	ENSP00000500267.1:n.-723G>C
ENST00000672427.1:c.-31G>C	ENSP00000500131.1:n.-31G>C
ENST00000672760.1:c.-31G>C	ENSP00000500530.1:n.-31G>C
ENST00000672968.1:n.20+110G>C
ENST00000673467.1:c.-31G>C	ENSP00000500288.1:n.-31G>C
ENST00000673620.1:c.-17+110G>C	ENSP00000500325.1:n.-17+110G>C
ENST00000303498.9:c.30G>C	ENSP00000306477.5:p.Arg10Ser
ENST00000417015.1:c.*281G>C	ENSP00000403775.1:n.*281G>C
ENST00000427382.1:c.-17+233G>C	ENSP00000397113.1:n.-17+233G>C
ENST00000437172.5:c.-153G>C	ENSP00000400995.1:n.-153G>C
ENST00000449107.5:c.50+110G>C	ENSP00000388212.1:n.50+110G>C
ENST00000467027.5:n.80G>C
ENST00000471964.5:n.110G>C
ENST00000480711.1:n.133G>C
ENST00000494021.1:n.401+110G>C
NM_000060.3:c.30G>C	NP_000051.1:p.Arg10Ser
NM_001281723.1:c.50+110G>C	NP_001268652.1:n.50+110G>C
NM_001281724.1:c.-153G>C	NP_001268653.1:n.-153G>C
NM_001281726.1:c.30G>C	NP_001268655.1:p.Arg10Ser
XM_006713314.2:c.-307G>C	XP_006713377.1:n.-307G>C
XM_011534041.1:c.-205G>C	XP_011532343.1:n.-205G>C
NM_000060.4:c.30G>C	NP_000051.1:p.Arg10Ser
NM_001281723.2:c.50+110G>C	NP_001268652.1:n.50+110G>C
NM_001281724.2:c.-153G>C	NP_001268653.1:n.-153G>C
NM_001323582.1:c.-307G>C	NP_001310511.1:n.-307G>C
XM_011534041.2:c.-205G>C	XP_011532343.1:n.-205G>C
XM_017007088.1:c.-481G>C	XP_016862577.1:n.-481G>C
NM_001281723.3:c.-17+110G>C	NP_001268652.2:n.-17+110G>C
NM_001281724.3:c.-219G>C	NP_001268653.2:n.-219G>C
NM_001370658.1:c.-31G>C MANE Select	NP_001357587.1:n.-31G>C
NM_001370752.1:c.-31G>C	NP_001357681.1:n.-31G>C
NM_001370753.1:c.-31G>C	NP_001357682.1:n.-31G>C
NM_001281726.2:c.-31G>C	NP_001268655.2:n.-31G>C